Incidental Mutation 'R4030:Slco2b1'
| ID |
313170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco2b1
|
| Ensembl Gene |
ENSMUSG00000030737 |
| Gene Name |
solute carrier organic anion transporter family, member 2b1 |
| Synonyms |
OATP-B, Slc21a9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99307011-99360547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99332032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 283
(L283P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032985]
[ENSMUST00000107086]
[ENSMUST00000107088]
|
| AlphaFold |
Q8BXB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032985
AA Change: L273P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: L273P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
40 |
637 |
9.3e-189 |
PFAM |
|
Pfam:MFS_1
|
44 |
468 |
1.9e-17 |
PFAM |
|
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107086
AA Change: L273P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: L273P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
40 |
637 |
9.3e-189 |
PFAM |
|
Pfam:MFS_1
|
44 |
468 |
1.9e-17 |
PFAM |
|
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107088
AA Change: L283P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: L283P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
52 |
646 |
3.6e-182 |
PFAM |
|
Pfam:MFS_1
|
53 |
476 |
2e-17 |
PFAM |
|
transmembrane domain
|
650 |
672 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| 2700062C07Rik |
C |
T |
18: 24,608,715 (GRCm39) |
P145L |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,841,984 (GRCm39) |
D201V |
probably damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,237 (GRCm39) |
S400P |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,059,559 (GRCm39) |
I617N |
probably damaging |
Het |
| Cdhr2 |
C |
A |
13: 54,865,674 (GRCm39) |
P224Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,202 (GRCm39) |
N1104S |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,892,267 (GRCm39) |
Y337H |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
| Cpsf1 |
G |
A |
15: 76,485,979 (GRCm39) |
T397M |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,662 (GRCm39) |
D32G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,690,815 (GRCm39) |
D308G |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,375,404 (GRCm39) |
N1063S |
possibly damaging |
Het |
| E030030I06Rik |
C |
A |
10: 22,024,899 (GRCm39) |
G5C |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,235,498 (GRCm39) |
T32A |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 78,005,623 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
G |
A |
4: 133,305,458 (GRCm39) |
R231H |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,792 (GRCm39) |
Q194K |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,510 (GRCm39) |
M13T |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,074 (GRCm39) |
L706* |
probably null |
Het |
| Krt12 |
A |
T |
11: 99,312,854 (GRCm39) |
F63L |
unknown |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,820,096 (GRCm39) |
S102P |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,596,798 (GRCm39) |
V71E |
probably damaging |
Het |
| Lrrc36 |
A |
C |
8: 106,153,439 (GRCm39) |
N83T |
probably damaging |
Het |
| Med26 |
G |
A |
8: 73,250,413 (GRCm39) |
R229C |
probably damaging |
Het |
| Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
| Mroh8 |
T |
A |
2: 157,055,640 (GRCm39) |
D986V |
probably damaging |
Het |
| Mrpl49 |
T |
C |
19: 6,105,230 (GRCm39) |
D77G |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,517,077 (GRCm39) |
N381D |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,899,985 (GRCm39) |
T729I |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,125 (GRCm39) |
N58K |
probably benign |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Or4a75 |
C |
A |
2: 89,448,207 (GRCm39) |
V110F |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,210,631 (GRCm39) |
L74Q |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,278,792 (GRCm39) |
Y1374N |
probably benign |
Het |
| Rbak |
A |
T |
5: 143,159,724 (GRCm39) |
I443K |
probably damaging |
Het |
| Rhpn1 |
A |
T |
15: 75,582,406 (GRCm39) |
S195C |
probably damaging |
Het |
| Rnf115 |
T |
A |
3: 96,693,299 (GRCm39) |
I210N |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,025,480 (GRCm39) |
V1234I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,430,978 (GRCm39) |
V407A |
probably benign |
Het |
| Serpina3n |
G |
T |
12: 104,377,660 (GRCm39) |
|
probably null |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Spag1 |
G |
A |
15: 36,234,447 (GRCm39) |
V736M |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,062,984 (GRCm39) |
C434S |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Trhr2 |
T |
C |
8: 123,087,438 (GRCm39) |
M1V |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,429,016 (GRCm39) |
R687G |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,044 (GRCm39) |
Y308C |
possibly damaging |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,576,898 (GRCm39) |
V61A |
possibly damaging |
Het |
|
| Other mutations in Slco2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Slco2b1
|
APN |
7 |
99,309,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL00469:Slco2b1
|
APN |
7 |
99,309,318 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02625:Slco2b1
|
APN |
7 |
99,309,330 (GRCm39) |
splice site |
probably null |
|
|
IGL03164:Slco2b1
|
APN |
7 |
99,334,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
3-1:Slco2b1
|
UTSW |
7 |
99,334,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Slco2b1
|
UTSW |
7 |
99,334,708 (GRCm39) |
nonsense |
probably null |
|
|
R0370:Slco2b1
|
UTSW |
7 |
99,339,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Slco2b1
|
UTSW |
7 |
99,310,743 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0510:Slco2b1
|
UTSW |
7 |
99,310,743 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1456:Slco2b1
|
UTSW |
7 |
99,314,114 (GRCm39) |
missense |
probably null |
|
|
R1868:Slco2b1
|
UTSW |
7 |
99,335,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Slco2b1
|
UTSW |
7 |
99,339,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4166:Slco2b1
|
UTSW |
7 |
99,309,333 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4406:Slco2b1
|
UTSW |
7 |
99,314,096 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4643:Slco2b1
|
UTSW |
7 |
99,316,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Slco2b1
|
UTSW |
7 |
99,320,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4927:Slco2b1
|
UTSW |
7 |
99,335,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Slco2b1
|
UTSW |
7 |
99,309,256 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5166:Slco2b1
|
UTSW |
7 |
99,338,220 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5306:Slco2b1
|
UTSW |
7 |
99,338,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5358:Slco2b1
|
UTSW |
7 |
99,309,251 (GRCm39) |
missense |
unknown |
|
|
R5389:Slco2b1
|
UTSW |
7 |
99,335,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5874:Slco2b1
|
UTSW |
7 |
99,316,301 (GRCm39) |
missense |
probably benign |
|
|
R6151:Slco2b1
|
UTSW |
7 |
99,339,770 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6163:Slco2b1
|
UTSW |
7 |
99,338,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Slco2b1
|
UTSW |
7 |
99,334,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Slco2b1
|
UTSW |
7 |
99,339,762 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Slco2b1
|
UTSW |
7 |
99,316,376 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7135:Slco2b1
|
UTSW |
7 |
99,344,270 (GRCm39) |
missense |
probably null |
0.03 |
|
R7322:Slco2b1
|
UTSW |
7 |
99,341,055 (GRCm39) |
missense |
not run |
|
|
R7353:Slco2b1
|
UTSW |
7 |
99,339,764 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7474:Slco2b1
|
UTSW |
7 |
99,314,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Slco2b1
|
UTSW |
7 |
99,338,050 (GRCm39) |
missense |
unknown |
|
|
R8121:Slco2b1
|
UTSW |
7 |
99,334,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8751:Slco2b1
|
UTSW |
7 |
99,309,259 (GRCm39) |
nonsense |
probably null |
|
|
R9031:Slco2b1
|
UTSW |
7 |
99,338,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Slco2b1
|
UTSW |
7 |
99,320,171 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9725:Slco2b1
|
UTSW |
7 |
99,335,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGGAATGATGAAGCCTC -3'
(R):5'- TGAACATCCCTTGAAGTCCTTC -3'
Sequencing Primer
(F):5'- CTCAGGAATGATGAAGCCTCATTAG -3'
(R):5'- TCCGCAAGTGCTCAGATTAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation